"Transcriptional downregulation of gap-junction proteins blocks junctional communication in human mammary tumor cell lines."
Lee S.W. , Tomasetto C. , Paul D. , Keyomarsi K. , Sager R.
J. Cell Biol.118:1213-1221(1992) [PubMed] [Europe PMC] [Abstract]

"Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana."
Hamelmann C. , Amedofu G.K. , Albrecht K. , Muntau B. , Gelhaus A. , Brobby G.W. , Horstmann R.D.
Hum. Mutat.18:84-85(2001) [PubMed] [Europe PMC] [Abstract]

"Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants."
Gasmelseed N.M.A. , Schmidt M. , Magzoub M.M.A. , Macharia M. , Elmustafa O.M. , Ototo B. , Winkler E. , Ruge G. , Horstmann R.D. , Meyer C.G.
Hum. Mutat.23:206-207(2004) [PubMed] [Europe PMC] [Abstract]

"GJB2 mutations: passage through Iran."
Najmabadi H. , Nishimura C. , Kahrizi K. , Riazalhosseini Y. , Malekpour M. , Daneshi A. , Farhadi M. , Mohseni M. , Mahdieh N. , Ebrahimi A. , Bazazzadegan N. , Naghavi A. , Avenarius M. , Arzhangi S. , Smith R.J.H.
Am. J. Med. Genet. A133:132-137(2005) [PubMed] [Europe PMC] [Abstract]

"A polymorphism in the genomic sequence of the coding region of connexin 26 in the South Indian population."
Joseph A.Y. , Rasool T.J.
Submitted (2002-02) to the EMBL/GenBank/DDBJ databases

"A novel mutation in the connexin 26 gene in the South Indian population."
Joseph A.Y. , Rasool T.J.
Submitted (2003-03) to the EMBL/GenBank/DDBJ databases

"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N. , Chen X. , Rolfs A. , Halleck A. , Hines L. , Eisenstein S. , Koundinya M. , Raphael J. , Moreira D. , Kelley T. , LaBaer J. , Lin Y. , Phelan M. , Farmer A.
Submitted (2003-05) to the EMBL/GenBank/DDBJ databases

"The DNA sequence and analysis of human chromosome 13."
Dunham A. , Matthews L.H. , Burton J. , Ashurst J.L. , Howe K.L. , Ashcroft K.J. , Beare D.M. , Burford D.C. , Hunt S.E. , Griffiths-Jones S. , Jones M.C. , Keenan S.J. , Oliver K. , Scott C.E. , Ainscough R. , Almeida J.P. , Ambrose K.D. , Andrews D.T. , Ashwell R.I.S. , Babbage A.K. , Bagguley C.L. , Bailey J. , Bannerjee R. , Barlow K.F. , Bates K. , Beasley H. , Bird C.P. , Bray-Allen S. , Brown A.J. , Brown J.Y. , Burrill W. , Carder C. , Carter N.P. , Chapman J.C. , Clamp M.E. , Clark S.Y. , Clarke G. , Clee C.M. , Clegg S.C. , Cobley V. , Collins J.E. , Corby N. , Coville G.J. , Deloukas P. , Dhami P. , Dunham I. , Dunn M. , Earthrowl M.E. , Ellington A.G. , Faulkner L. , Frankish A.G. , Frankland J. , French L. , Garner P. , Garnett J. , Gilbert J.G.R. , Gilson C.J. , Ghori J. , Grafham D.V. , Gribble S.M. , Griffiths C. , Hall R.E. , Hammond S. , Harley J.L. , Hart E.A. , Heath P.D. , Howden P.J. , Huckle E.J. , Hunt P.J. , Hunt A.R. , Johnson C. , Johnson D. , Kay M. , Kimberley A.M. , King A. , Laird G.K. , Langford C.J. , Lawlor S. , Leongamornlert D.A. , Lloyd D.M. , Lloyd C. , Loveland J.E. , Lovell J. , Martin S. , Mashreghi-Mohammadi M. , McLaren S.J. , McMurray A. , Milne S. , Moore M.J.F. , Nickerson T. , Palmer S.A. , Pearce A.V. , Peck A.I. , Pelan S. , Phillimore B. , Porter K.M. , Rice C.M. , Searle S. , Sehra H.K. , Shownkeen R. , Skuce C.D. , Smith M. , Steward C.A. , Sycamore N. , Tester J. , Thomas D.W. , Tracey A. , Tromans A. , Tubby B. , Wall M. , Wallis J.M. , West A.P. , Whitehead S.L. , Willey D.L. , Wilming L. , Wray P.W. , Wright M.W. , Young L. , Coulson A. , Durbin R.M. , Hubbard T. , Sulston J.E. , Beck S. , Bentley D.R. , Rogers J. , Ross M.T. more...
Nature428:522-528(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment."
del Castillo F.J. , Rodriguez-Ballesteros M. , Alvarez A. , Hutchin T. , Leonardi E. , de Oliveira C.A. , Azaiez H. , Brownstein Z. , Avenarius M.R. , Marlin S. , Pandya A. , Shahin H. , Siemering K.R. , Weil D. , Wuyts W. , Aguirre L.A. , Martin Y. , Moreno-Pelayo M.A. , Villamar M. , Avraham K.B. , Dahl H.H. , Kanaan M. , Nance W.E. , Petit C. , Smith R.J. , Van Camp G. , Sartorato E.L. , Murgia A. , Moreno F. , del Castillo I. more...
J. Med. Genet.42:588-594(2005) [PubMed] [Europe PMC] [Abstract]

"Structure of the connexin 26 gap junction channel at 3.5 A resolution."
Maeda S. , Nakagawa S. , Suga M. , Yamashita E. , Oshima A. , Fujiyoshi Y. , Tsukihara T.
Nature458:597-602(2009) [PubMed] [Europe PMC] [Abstract]

"Connexin 26 mutations in hereditary non-syndromic sensorineural deafness."
Kelsell D.P. , Dunlop J. , Stevens H.P. , Lench N.J. , Liang J.N. , Parry G. , Mueller R.F. , Leigh I.M.
Nature387:80-83(1997) [PubMed] [Europe PMC] [Abstract]

"Connexin mutations and hearing loss."
Scott D.A. , Kraft M.L. , Tone M.M. , Sheffield V.C. , Smith R.J.H.
Nature391:32-32(1998) [PubMed] [Europe PMC] [Abstract]

"Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations."
Carrasquillo M.M. , Zlotogora J. , Barges S. , Chakravarti A.
Hum. Mol. Genet.6:2163-2172(1997) [PubMed] [Europe PMC] [Abstract]

"Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene."
Denoyelle F. , Weil D. , Maw M.A. , Wilcox S.A. , Lench N.J. , Allen-Powell D.R. , Osborn A.H. , Dahl H.-H.M. , Middleton A. , Houseman M.J. , Dode C. , Marlin S. , Boulila-ElGaied A. , Grati M. , Ayadi H. , BenArab S. , Bitoun P. , Lina-Granade G. , Godet J. , Mustapha M. , Loiselet J. , El-Zir E. , Aubois A. , Joannard A. , Levilliers J. , Garabedian E.-N. , Mueller R.F. , McKinlay Gardner R.J. , Petit C. more...
Hum. Mol. Genet.6:2173-2177(1997) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss."
Kelley P.M. , Harris D.J. , Comer B.C. , Askew J.W. , Fowler T. , Smith S.D. , Kimberling W.J.
Am. J. Hum. Genet.62:792-799(1998) [PubMed] [Europe PMC] [Abstract]

"Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma."
Richard G. , White T.W. , Smith L.E. , Bailey R.A. , Compton J.G. , Paul D.L. , Bale S.J.
Hum. Genet.103:393-399(1998) [PubMed] [Europe PMC] [Abstract]

"Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss."
Scott D.A. , Kraft M.L. , Carmi R. , Ramesh A. , Elbedour K. , Yairi Y. , Srikumari Srisailapathy C.R. , Rosengren S.S. , Markham A.F. , Mueller R.F. , Lench N.J. , van Camp G. , Smith R.J.H. , Sheffield V.C.
Hum. Mutat.11:387-394(1998) [PubMed] [Europe PMC] [Abstract]

"Connexin 26 gene linked to a dominant deafness."
Denoyelle F. , Lina-Granade G. , Plauchu H. , Bruzzone R. , Chaib H. , Levi-Acobas F. , Weil D. , Petit C.
Nature393:319-320(1998) [PubMed] [Europe PMC] [Abstract]

"Connexin 26 R143W mutation associated with recessive nonsyndromic sensorineural deafness in Africa."
Brobby G.W. , Muller-Myhsok B. , Horstmann R.D.
N. Engl. J. Med.338:548-550(1998) [PubMed] [Europe PMC] [Abstract]

"A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families."
Maestrini E. , Korge B.P. , Ocana-Sierra J. , Calzolari E. , Cambiaghi S. , Scudder P.M. , Hovnanian A. , Monaco A.P. , Munro C.S.
Hum. Mol. Genet.8:1237-1243(1999) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population."
Kudo T. , Ikeda K. , Kure S. , Matsubara Y. , Oshima T. , Watanabe K. , Kawase T. , Narisawa K. , Takasaka T.
Am. J. Med. Genet.90:141-145(2000) [PubMed] [Europe PMC] [Abstract]

"Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family."
Kelsell D.P. , Wilgoss A.L. , Richard G. , Stevens H.P. , Munro C.S. , Leigh I.M.
Eur. J. Hum. Genet.8:141-144(2000) [PubMed] [Europe PMC] [Abstract]

"High frequency hearing loss correlated with mutations in the GJB2 gene."
Wilcox S.A. , Saunders K. , Osborn A.H. , Arnold A. , Wunderlich J. , Kelly T. , Collins V. , Wilcox L.J. , McKinlay Gardner R.J. , Kamarinos M. , Cone-Wesson B. , Williamson R. , Dahl H.-H.M.
Hum. Genet.106:399-405(2000) [PubMed] [Europe PMC] [Abstract]

"A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)."
Heathcote K. , Syrris P. , Carter N.D. , Patton M.A.
J. Med. Genet.37:50-51(2000) [PubMed] [Europe PMC] [Abstract]

"A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss."
Morle L. , Bozon M. , Alloisio N. , Latour P. , Vandenberghe A. , Plauchu H. , Collet L. , Edery P. , Godet J. , Lina-Granade G.
J. Med. Genet.37:368-370(2000) [PubMed] [Europe PMC] [Abstract]

"Sensorineural hearing loss and the incidence of Cx26 mutations in Austria."
Loffler J. , Nekahm D. , Hirst-Stadlmann A. , Gunther B. , Menzel H.J. , Utermann G. , Janecke A.R.
Eur. J. Hum. Genet.9:226-230(2001) [PubMed] [Europe PMC] [Abstract]

"Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome."
Richard G. , Rouan F. , Willoughby C.E. , Brown N. , Chung P. , Ryynanen M. , Jabs E.W. , Bale S.J. , DiGiovanna J.J. , Uitto J. , Russell L.
Am. J. Hum. Genet.70:1341-1348(2002) [PubMed] [Europe PMC] [Abstract]

"Exploring the clinical and epidemiological complexity of GJB2-linked deafness."
Gualandi F. , Ravani A. , Berto A. , Sensi A. , Trabanelli C. , Falciano F. , Trevisi P. , Mazzoli M. , Tibiletti M.G. , Cristofari E. , Burdo S. , Ferlini A. , Martini A. , Calzolari E.
Am. J. Med. Genet.112:38-45(2002) [PubMed] [Europe PMC] [Abstract]

"HID and KID syndromes are associated with the same connexin 26 mutation."
van Geel M. , van Steensel M.A.M. , Kuester W. , Hennies H.C. , Happle R. , Steijlen P.M. , Koenig A.
Br. J. Dermatol.146:938-942(2002) [PubMed] [Europe PMC] [Abstract]

"Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss."
Bason L. , Dudley T. , Lewis K. , Shah U. , Potsic W. , Ferraris A. , Fortina P. , Rappaport E. , Krantz I.D.
Clin. Genet.61:459-464(2002) [PubMed] [Europe PMC] [Abstract]

"The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family."
Uyguner O. , Tukel T. , Baykal C. , Eris H. , Emiroglu M. , Hafiz G. , Ghanbari A. , Baserer N. , Yuksel-Apak M. , Wollnik B.
Clin. Genet.62:306-309(2002) [PubMed] [Europe PMC] [Abstract]

"De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome."
Alvarez A. , Del Castillo I. , Pera A. , Villamar M. , Moreno-Pelayo M.A. , Moreno F. , Moreno R. , Tapia M.C.
Am. J. Med. Genet. A117:89-91(2003) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome."
Yotsumoto S. , Hashiguchi T. , Chen X. , Ohtake N. , Tomitaka A. , Akamatsu H. , Matsunaga K. , Shiraishi S. , Miura H. , Adachi J. , Kanzaki T.
Br. J. Dermatol.148:649-653(2003) [PubMed] [Europe PMC] [Abstract]

"A novel dominant missense mutation -- D179N -- in the GJB2 gene (connexin 26) associated with non-syndromic hearing loss."
Primignani P. , Castorina P. , Sironi F. , Curcio C. , Ambrosetti U. , Coviello D.A.
Clin. Genet.63:516-521(2003) [PubMed] [Europe PMC] [Abstract]

"GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation."
Ohtsuka A. , Yuge I. , Kimura S. , Namba A. , Abe S. , Van Laer L. , Van Camp G. , Usami S.
Hum. Genet.112:329-333(2003) [PubMed] [Europe PMC] [Abstract]

"Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30."
Marziano N.K. , Casalotti S.O. , Portelli A.E. , Becker D.L. , Forge A.
Hum. Mol. Genet.12:805-812(2003) [PubMed] [Europe PMC] [Abstract]

"Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India."
Ramshankar M. , Girirajan S. , Dagan O. , Ravi Shankar H.M. , Jalvi R. , Rangasayee R. , Avraham K.B. , Anand A.
J. Med. Genet.40:E68-E68(2003) [PubMed] [Europe PMC] [Abstract]

"Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene."
Feldmann D. , Denoyelle F. , Loundon N. , Weil D. , Garabedian E.N. , Couderc R. , Joannard A. , Schmerber S. , Delobel B. , Leman J. , Journel H. , Catros H. , Ferrec C. , Drouin-Garraud V. , Obstoy M.F. , Moati L. , Petit C. , Marlin S.
Eur. J. Hum. Genet.12:279-284(2004) [PubMed] [Europe PMC] [Abstract]

"Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2."
Richard G. , Brown N. , Ishida-Yamamoto A. , Krol A.
J. Invest. Dermatol.123:856-863(2004) [PubMed] [Europe PMC] [Abstract]

"G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome."
Alexandrino F. , Sartorato E.L. , Marques-de-Faria A.P. , Steiner C.E.
Am. J. Med. Genet. A136:282-284(2005) [PubMed] [Europe PMC] [Abstract]

"Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss."
Piazza V. , Beltramello M. , Menniti M. , Colao E. , Malatesta P. , Argento R. , Chiarella G. , Gallo L.V. , Catalano M. , Perrotti N. , Mammano F. , Cassandro E.
Clin. Genet.68:161-166(2005) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis of the GJB2 (connexin 26) gene in Egypt."
Snoeckx R.L. , Hassan D.M. , Kamal N.M. , Van Den Bogaert K. , Van Camp G.
Hum. Mutat.26:60-61(2005) [PubMed] [Europe PMC] [Abstract]

"Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness."
Beltramello M. , Piazza V. , Bukauskas F.F. , Pozzan T. , Mammano F.
Nat. Cell Biol.7:63-69(2005) [PubMed] [Europe PMC] [Abstract]

"Pathogenetic role of the deafness-related M34T mutation of Cx26."
Bicego M. , Beltramello M. , Melchionda S. , Carella M. , Piazza V. , Zelante L. , Bukauskas F.F. , Arslan E. , Cama E. , Pantano S. , Bruzzone R. , D'Andrea P. , Mammano F.
Hum. Mol. Genet.15:2569-2587(2006) [PubMed] [Europe PMC] [Abstract]

"M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance."
Pollak A. , Skorka A. , Mueller-Malesinska M. , Kostrzewa G. , Kisiel B. , Waligora J. , Krajewski P. , Oldak M. , Korniszewski L. , Skarzynski H. , Ploski R.
Am. J. Med. Genet. A143:2534-2543(2007) [PubMed] [Europe PMC] [Abstract]

"A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort."
Putcha G.V. , Bejjani B.A. , Bleoo S. , Booker J.K. , Carey J.C. , Carson N. , Das S. , Dempsey M.A. , Gastier-Foster J.M. , Greinwald J.H. Jr. , Hoffmann M.L. , Jeng L.J. , Kenna M.A. , Khababa I. , Lilley M. , Mao R. , Muralidharan K. , Otani I.M. , Rehm H.L. , Schaefer F. , Seltzer W.K. , Spector E.B. , Springer M.A. , Weck K.E. , Wenstrup R.J. , Withrow S. , Wu B.L. , Zariwala M.A. , Schrijver I. more...
Genet. Med.9:413-426(2007) [PubMed] [Europe PMC] [Abstract]

"A novel hearing-loss-related mutation occurring in the GJB2 basal promoter."
Matos T.D. , Caria H. , Simoes-Teixeira H. , Aasen T. , Nickel R. , Jagger D.J. , O'Neill A. , Kelsell D.P. , Fialho G.
J. Med. Genet.44:721-725(2007) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness."
de Zwart-Storm E.A. , Hamm H. , Stoevesandt J. , Steijlen P.M. , Martin P.E. , van Geel M. , van Steensel M.A.M.
J. Med. Genet.45:161-166(2008) [PubMed] [Europe PMC] [Abstract]

"Connexin mutations in Brazilian patients with skin disorders with or without hearing loss."
Alexandrino F. , de Oliveira C.A. , Magalhaes R.F. , Florence M.E. , de Souza E.M. , Sartorato E.L.
Am. J. Med. Genet. A149:681-684(2009) [PubMed] [Europe PMC] [Abstract]

"New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma."
Iossa S. , Chinetti V. , Auletta G. , Laria C. , De Luca M. , Rienzo M. , Giannini P. , Delfino M. , Ciccodicola A. , Marciano E. , Franze A.
Am. J. Med. Genet. A149:685-688(2009) [PubMed] [Europe PMC] [Abstract]

"Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss."
Nemoto-Hasebe I. , Akiyama M. , Kudo S. , Ishiko A. , Tanaka A. , Arita K. , Shimizu H.
Br. J. Dermatol.161:452-455(2009) [PubMed] [Europe PMC] [Abstract]

"Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss."
Choi S.-Y. , Park H.-J. , Lee K.Y. , Dinh E.H. , Chang Q. , Ahmad S. , Lee S.H. , Bok J. , Lin X. , Kim U.-K.
Hum. Mutat.30:E716-E727(2009) [PubMed] [Europe PMC] [Abstract]

"Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss."
Riahi Z. , Hammami H. , Ouragini H. , Messai H. , Zainine R. , Bouyacoub Y. , Romdhane L. , Essaid D. , Kefi R. , Rhimi M. , Bedoui M. , Dhaouadi A. , Feldmann D. , Jonard L. , Besbes G. , Abdelhak S.
Gene525:1-4(2013) [PubMed] [Europe PMC] [Abstract]